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异柠檬酸脱氢酶1/2(IDH1/IDH2)突变型急性髓系白血病的疾病特征与监测

Disease characteristics and monitoring of IDH1/IDH2-mutated acute myeloid leukemia.

作者信息

Dantec Mélinda, Dufossé Maxime, Boudry Augustin, Fournier Elise, Goursaud Laure, Lebon Delphine, Bories Claire, Plantier Isabelle, Tricot Sabine, Daniel Adrien, Willaume Alexandre, Coiteux Valérie, Berthon Céline, Marolleau Jean-Pierre, Preudhomme Claude, Duployez Nicolas, Fenwarth Laurène

机构信息

Laboratory of Hematology, Biology and Pathology Center, CHU Lille, Lille, France.

University of Lille, U1277-Canther, INSERM, Lille, France.

出版信息

Blood Cancer J. 2025 May 23;15(1):101. doi: 10.1038/s41408-025-01304-x.

DOI:10.1038/s41408-025-01304-x
PMID:40410134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12102383/
Abstract

[Image: see text]

摘要

[图像:见正文]

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4953/12102383/ea2d71a6f47e/41408_2025_1304_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4953/12102383/63ab422c9c81/41408_2025_1304_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4953/12102383/ea2d71a6f47e/41408_2025_1304_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4953/12102383/63ab422c9c81/41408_2025_1304_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4953/12102383/ea2d71a6f47e/41408_2025_1304_Fig2_HTML.jpg

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1
Disease characteristics and monitoring of IDH1/IDH2-mutated acute myeloid leukemia.异柠檬酸脱氢酶1/2(IDH1/IDH2)突变型急性髓系白血病的疾病特征与监测
Blood Cancer J. 2025 May 23;15(1):101. doi: 10.1038/s41408-025-01304-x.
2
Outcomes for Patients With IDH-Mutated Acute Myeloid Leukemia Undergoing Allogeneic Hematopoietic Cell Transplantation.异柠檬酸脱氢酶突变型急性髓系白血病患者接受异基因造血细胞移植的结局。
Transplant Cell Ther. 2021 Jun;27(6):479.e1-479.e7. doi: 10.1016/j.jtct.2021.02.028. Epub 2021 Feb 25.
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Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.新诊断的急性髓系白血病患者中异柠檬酸脱氢酶 1 和 2(IDH1 和 IDH2)代谢基因的分子改变和其他基因突变。
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IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication.IDH1 和 IDH2 突变是急性髓系白血病中常见的遗传改变,并且在伴有 NPM1 突变但无 FLT3 内部串联重复的核型正常急性髓系白血病中具有不良预后。
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本文引用的文献

1
Advantages of a genomic DNA-based next-generation sequencing assay for detection of mutant NPM1 measurable residual disease in AML.基于基因组DNA的新一代测序检测法在急性髓系白血病中检测突变型NPM1可测量残留病的优势。
Blood Adv. 2025 Mar 11;9(5):1069-1077. doi: 10.1182/bloodadvances.2024014490.
2
Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia.急性髓系白血病异基因移植前可测量的残留突变型异柠檬酸脱氢酶1
Bone Marrow Transplant. 2025 Feb;60(2):154-160. doi: 10.1038/s41409-024-02447-4. Epub 2024 Nov 6.
3
Measurable residual mutated IDH2 before allogeneic transplant for acute myeloid leukemia.
急性髓系白血病异基因移植前可测量的残留突变型异柠檬酸脱氢酶2
Bone Marrow Transplant. 2025 Feb;60(2):144-153. doi: 10.1038/s41409-024-02449-2. Epub 2024 Oct 25.
4
Venetoclax and hypomethylating agent combination therapy in newly diagnosed acute myeloid leukemia: Genotype signatures for response and survival among 301 consecutive patients.维奈托克与低甲基化剂联合治疗初诊急性髓系白血病:301 例连续患者的反应和生存的基因型特征。
Am J Hematol. 2024 Feb;99(2):193-202. doi: 10.1002/ajh.27138. Epub 2023 Dec 10.
5
DNA Sequencing to Detect Residual Disease in Adults With Acute Myeloid Leukemia Prior to Hematopoietic Cell Transplant.DNA 测序检测造血细胞移植前急性髓系白血病成人患者的残留疾病。
JAMA. 2023 Mar 7;329(9):745-755. doi: 10.1001/jama.2023.1363.
6
Impact of IDH1 and IDH2 mutation detection at diagnosis and in remission in patients with AML receiving allogeneic transplantation.在接受异基因移植的 AML 患者中,诊断时和缓解时 IDH1 和 IDH2 突变检测的影响。
Blood Adv. 2023 Feb 14;7(3):436-444. doi: 10.1182/bloodadvances.2021005789.
7
Impact of Venetoclax and Azacitidine in Treatment-Naïve Patients with Acute Myeloid Leukemia and IDH1/2 Mutations. Venetoclax 和阿扎胞苷在初治伴 IDH1/2 突变的急性髓系白血病患者中的疗效。
Clin Cancer Res. 2022 Jul 1;28(13):2753-2761. doi: 10.1158/1078-0432.CCR-21-3467.
8
Therapy for isocitrate dehydrogenase 2 (IDH2) -mutant acute myeloid leukaemia.异柠檬酸脱氢酶2(IDH2)突变型急性髓系白血病的治疗
Br J Haematol. 2022 Mar;196(6):1348-1352. doi: 10.1111/bjh.17981. Epub 2021 Dec 6.
9
Persistent mutations in remission can predict relapse in patients with acute myeloid leukemia.缓解期持续存在的突变可预测急性髓系白血病患者的复发。
Haematologica. 2019 Feb;104(2):305-311. doi: 10.3324/haematol.2018.191148. Epub 2018 Aug 31.
10
Clinical relevance of mutant allele burden during follow-up in acute myeloid leukemia. A study by the French ALFA group.在急性髓系白血病随访期间,突变等位基因负担的临床意义。法国 ALFA 集团的一项研究。
Haematologica. 2018 May;103(5):822-829. doi: 10.3324/haematol.2017.183525. Epub 2018 Feb 22.